Abstract
A 61-year-old man presented with an acute type B aortic dissection for which a stent-graft was introduced. He remains complication-free 4 years onwards and has since been diagnosed with Ehlers-Danlos syndrome type IV (EDS IV). His particular mutation is predicted to result in lesser levels of normal collagen and may explain his favourable outcome from endovascular intervention. Understanding the genotype-phenotype correlation may influence the choice of therapy offered to patients with EDS IV.
MeSH terms
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Acute Disease
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Aortic Aneurysm, Thoracic / diagnostic imaging
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Aortic Aneurysm, Thoracic / etiology
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Aortic Aneurysm, Thoracic / surgery*
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Aortic Dissection / diagnostic imaging
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Aortic Dissection / etiology
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Aortic Dissection / surgery*
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Aortography / methods
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Blood Vessel Prosthesis
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Blood Vessel Prosthesis Implantation* / instrumentation
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Collagen Type III / genetics
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DNA Mutational Analysis
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Ehlers-Danlos Syndrome / complications
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Ehlers-Danlos Syndrome / diagnosis*
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Ehlers-Danlos Syndrome / genetics
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Genetic Predisposition to Disease
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Humans
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Male
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Middle Aged
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Mutation
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Phenotype
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Stents
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Time Factors
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Tomography, X-Ray Computed
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Treatment Outcome
Substances
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COL3A1 protein, human
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Collagen Type III